Archive for the ‘Next-generation sequencing’ Category

Great stories are published daily about the impact personalized medicine is having on individual patients, and the medical community as a whole, but it can be a challenge to stay on top of the news. With that in mind, we bring to you a monthly roundup of the three to five most thought-provoking articles we are reading, sharing and discussing with our colleagues.

When it comes to individual health risks, there is no such thing as average, yet most health guidelines and recommendations are tailored to “average” individuals in the population. This blog post by Muin J. Khoury, director of the Office of Public Health Genomics at the Centers for Disease Control and Prevention highlights some of the challenges to actualizing the concept of individualized disease prevention and best utilizing each individual’s biological uniqueness.

For more than 30 years, Ide Mills worked as an oncology social worker, health educator, and communication strategist. Now as a woman living with advanced, ALK-positive non-small cell lung cancer, Mills tells Genome magazine about her experience transitioning from intravenous chemotherapy to a twice-daily pill regimen to help treat her disease. Her story details the challenges – and improvements – she experienced adjusting to the concept of oral cancer therapy and taking an active role in her healthcare.

When she founded genetic company 23andMe more than six years ago, Anne Wojcicki’s ultimate goal was for people to be in control of their own healthcare. Wojcicki is still determined to change the way traditional healthcare works in the United States by shifting the focus to individuals instead of institutions. 23andMe is currently working with the U.S. Food and Drug Administration to get approval for its direct-to-consumer personal health reports that analyze an individual’s DNA.

A number of major insurers are beginning to address the increasing availability and usage of gene-sequencing tests by seeking proof that the results will lead to meaningful treatments among the estimated 2 million Americans with a serious, undiagnosed disease. Genetic experts have responded saying that gene-sequencing tests, such as exome sequencing, are bringing hope to families by more than doubling the chances they will get a diagnosis and saving them money by not spending it on multiple tests of a single gene.

In last month’s Required Reading, we shared an article from The New York Times about next-generation sequencing (NGS). Learn more about the private cloud-based environment called the High-Performance Integrated Virtual Environment (HIVE) that the Center for Biologics Evaluation and Research supported the development of to help prepare the U.S. Food and Drug Administration to review and understand the interpretation and significance of data in regulatory submissions that include NGS.

Great stories are published daily about the impact personalized medicine is having on individual patients, and the medical community as a whole, but it can be a challenge to stay on top of the news. With that in mind, we bring to you a monthly roundup of the three to five most thought-provoking articles we are reading, sharing and discussing with our colleagues.

One-size-fits-all blockbuster drugs are giving way to treatments tailored to individuals’ genetic makeups. This article highlights the advantages of these targeted treatments, posing important questions that regulators, drug makers, insurers and patients alike need to consider as more specialized drugs come to market, including who will benefit and how to ensure patients have access to life-saving treatments.

Diagnosis is a crucial step in medicine, but it can also be the most difficult. A new DNA sequencing technology, called unbiased next-generation sequencing, can identify a pathogen by testing DNA samples from a patient and then comparing fragments with genetic sequences stored in online databases. This technology has the potential to not only provide speedy diagnoses to critically ill patients, but could lead to more effective treatments for diseases that can be hard to identify.

This article highlights how continued innovation in our understanding of cancer and the emergence of companies providing personalized treatments helped change one patient’s life by turning his cancer diagnosis from a death sentence into a managed chronic illness.

Hot on the heels of the 2014 American Society of Clinical Oncology annual meeting and Institute of Medicine’s National Cancer Policy Forum earlier this month, this op-ed focuses on the role of medical innovation and patient-centered approaches in the growing discussion on the cost and value of cancer research and care.

The meeting I’m most looking forward to, however, is the 6th Annual Personalized Medicine World Conference (PMWC), to be held on January 27th and 28th in Silicon Valley. This event has flourished in recent years, offering a magnificent opportunity to meet and hear from world-renowned experts at the forefront of genomics, molecular diagnostics and personalized medicine.

The overarching theme of PMWC 2014 is: The Arrival of Actionable Personalized Medicine: The Age of Guided Disease Management. The opening session includes discussions featuring personalized medicine luminaries including Brook Byers, Randy Scott, Lee Hood, and NHGRI director Eric Green. I expect vigorous debate of pressing issues including the impact of the Supreme Court’s gene patent decision, the development of targeted therapies in cancer and neurological disorders, as well as regulatory and reimbursement trends.

PMWC 2014 will also showcase the remarkable pace of implementation of next-generation sequencing (NGS) in a clinical context, as the cost of a full genome sequence has plunged to just a few thousand dollars. Diagnostic companies and medical centers are now routinely offering comprehensive genome analysis, as evidenced by the recent report from Christine Eng and colleagues at Baylor College of Medicine in the New England Journal of Medicine on the first 250 patients studied using whole-exome sequencing.

On the eve of PMWC 2014, the conference organizers are hosting a special event to honor Jay Flatley, CEO of Illumina. Since the acquisition of the British biotech company Solexa in 2007, Illumina has been a dominant leader in NGS technology.

But Illumina and the rest of the NGS field are bracing for another seismic event as exciting new technologies, led by nanopore sequencing, are poised to emerge. Just a few weeks ago, I was privileged to attend a live demo of Oxford Nanopore’s new MinION sequencer, as portable as a smartphone, along with a couple of dozen sequencing experts. Judging from the enthused reaction of the assembled guests, I would anticipate a commercial launch sometime in 2014.

So there will be plenty to talk about when, on Day 2 of PMWC 2014, I’ll be moderating a special panel discussion – Killer apps, genome interpretation and the future of NGS – featuring five outstanding authorities in DNA sequencing. The panelists include Stanford University’s Steve Quake, the co-founder of Fluidigm and Helicos; Michael Hunkapiller, chief executive of Pacific Biosciences (and formerly of Applied Biosystems); Cliff Reid, the founding CEO of Complete Genomics, now part of BGI; Stefan Roever, CEO of nanopore sequencing start-up Genia Technologies; and Maneesh Jain, who handles business development at Ion Torrent.

One of the panelists suggested – not entirely tongue-in-cheek — that we subtitle the session: Will anyone succeed in knocking Illumina off its perch? I suggest you book a place at PMWC 2014 and find out!